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Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss - Fig 3

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posted on 11.05.2015 by Fei Liu, Jiongjiong Hu, Wenjun Xia, Lili Hao, Jing Ma, Duan Ma, Zhaoxin Ma

(A) Read coverage of each chromosome and mutation loci statistical results of the patients and of the normal control; (B) DNA sequence chromatograms presenting the two heterozygous missense mutations c.511G>C; p.G171R in affected individuals (upper panel) compared with the wild-type controls (lower panel). (C) The structure of the EYA4 gene. The EYA4 gene has 20 exons. The c.511G>C; p.G171R mutation identified in the EYA4 gene is in exon 8. The conservation analysis indicates that the Gly residue at 171 in the EYA4 protein is not conserved across Homo sapiens, Pan troglodytes, Macaca mulatta, Mus musculus, Gallus gallus, Takifugu rubripes, Danio rerio and Xenopus tropicalis.